Incidental Mutation 'R5936:Trappc8'
ID 462299
Institutional Source Beutler Lab
Gene Symbol Trappc8
Ensembl Gene ENSMUSG00000033382
Gene Name trafficking protein particle complex 8
Synonyms 5033403J15Rik, D030074E01Rik, Trs85
MMRRC Submission 044130-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R5936 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 20950280-21029150 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21007745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 123 (F123L)
Ref Sequence ENSEMBL: ENSMUSP00000153183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025177] [ENSMUST00000097658] [ENSMUST00000225661]
AlphaFold A0A286YCX6
Predicted Effect probably damaging
Transcript: ENSMUST00000025177
AA Change: F123L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025177
Gene: ENSMUSG00000033382
AA Change: F123L

DomainStartEndE-ValueType
Pfam:TRAPPC-Trs85 157 604 1e-167 PFAM
low complexity region 769 777 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000097658
AA Change: F123L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095262
Gene: ENSMUSG00000033382
AA Change: F123L

DomainStartEndE-ValueType
Pfam:TRAPPC-Trs85 152 605 9.3e-135 PFAM
low complexity region 769 777 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000225661
AA Change: F123L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
Validation Efficiency 91% (77/85)
Allele List at MGI

All alleles(11) : Gene trapped(11)

Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A T 2: 68,445,848 (GRCm39) probably benign Het
Acnat2 T C 4: 49,383,362 (GRCm39) T64A probably benign Het
Afap1 A G 5: 36,131,740 (GRCm39) N356D possibly damaging Het
Ahi1 A G 10: 20,841,832 (GRCm39) D301G probably damaging Het
Alpk2 G A 18: 65,483,591 (GRCm39) T139M probably damaging Het
Ankrd46 T C 15: 36,479,428 (GRCm39) D221G probably benign Het
Ano6 T A 15: 95,870,482 (GRCm39) L900H probably damaging Het
Asphd2 G A 5: 112,533,623 (GRCm39) R343* probably null Het
Atosa T C 9: 74,916,586 (GRCm39) L395P probably benign Het
Brdt A G 5: 107,507,261 (GRCm39) T554A probably damaging Het
Cacna1d A G 14: 29,893,271 (GRCm39) V401A possibly damaging Het
Cbs T C 17: 31,844,068 (GRCm39) T188A probably damaging Het
Cfap54 T A 10: 92,798,274 (GRCm39) T1662S probably benign Het
Chka A G 19: 3,934,580 (GRCm39) I205V probably benign Het
Chsy1 T A 7: 65,822,025 (GRCm39) N753K possibly damaging Het
Cpz A G 5: 35,659,987 (GRCm39) S553P probably benign Het
Crtac1 A G 19: 42,312,276 (GRCm39) Y146H probably damaging Het
Csf1r A T 18: 61,258,880 (GRCm39) I700F probably damaging Het
Ddx20 C A 3: 105,587,903 (GRCm39) E392D possibly damaging Het
Dhrs11 G T 11: 84,716,350 (GRCm39) Y67* probably null Het
Diaph3 G T 14: 87,009,552 (GRCm39) Q1076K possibly damaging Het
Dop1a T A 9: 86,418,565 (GRCm39) L2037* probably null Het
Dst G T 1: 34,346,539 (GRCm39) V5336L probably damaging Het
Etv1 C A 12: 38,885,209 (GRCm39) H248Q probably damaging Het
Fcgbp T C 7: 27,786,117 (GRCm39) V518A probably damaging Het
Fchsd2 T C 7: 100,840,908 (GRCm39) L139S probably damaging Het
Fer A T 17: 64,231,058 (GRCm39) T270S probably benign Het
Fgd5 A G 6: 91,964,892 (GRCm39) E375G probably damaging Het
Firrm T G 1: 163,814,581 (GRCm39) I121L probably benign Het
Gabarapl1 T A 6: 129,515,566 (GRCm39) I68N probably benign Het
Gopc C T 10: 52,222,295 (GRCm39) V30M probably damaging Het
Hbp1 T C 12: 31,987,095 (GRCm39) probably null Het
Helz2 A G 2: 180,872,560 (GRCm39) V2480A probably damaging Het
Igfbp3 T A 11: 7,159,472 (GRCm39) Y247F probably damaging Het
Kbtbd11 C A 8: 15,077,534 (GRCm39) S44R probably benign Het
Kcnk10 G T 12: 98,456,191 (GRCm39) S213R probably benign Het
Kcnq3 T A 15: 65,871,959 (GRCm39) D570V probably damaging Het
Kif21a A G 15: 90,819,850 (GRCm39) F1594S possibly damaging Het
Klf3 A G 5: 64,980,303 (GRCm39) D31G probably damaging Het
Mapkapk3 T C 9: 107,166,369 (GRCm39) K59E probably damaging Het
Myo18a A G 11: 77,709,039 (GRCm39) T484A probably damaging Het
Nlrp6 T A 7: 140,502,725 (GRCm39) L277* probably null Het
Nr5a1 G T 2: 38,591,790 (GRCm39) probably benign Het
Nsmaf C T 4: 6,421,017 (GRCm39) probably benign Het
Or4f58 T A 2: 111,851,932 (GRCm39) H89L probably benign Het
Orc1 A G 4: 108,459,180 (GRCm39) T450A probably benign Het
Pacsin1 A T 17: 27,923,971 (GRCm39) I122F probably benign Het
Pced1b T A 15: 97,283,061 (GRCm39) Y367N possibly damaging Het
Pced1b T A 15: 97,283,063 (GRCm39) Y367* probably null Het
Pdpk1 A G 17: 24,312,203 (GRCm39) F281L probably damaging Het
Piwil1 T C 5: 128,828,142 (GRCm39) V714A probably benign Het
Plcd3 C T 11: 102,969,173 (GRCm39) V265M probably damaging Het
Ppp1r1c A T 2: 79,586,798 (GRCm39) E48V possibly damaging Het
Prl2b1 T G 13: 27,572,432 (GRCm39) T53P probably damaging Het
Ptch2 T G 4: 116,965,491 (GRCm39) F359V probably benign Het
R3hdm2 G A 10: 127,307,681 (GRCm39) S314N probably damaging Het
Rictor A T 15: 6,813,642 (GRCm39) S1043C probably damaging Het
Rtn4rl2 A T 2: 84,710,775 (GRCm39) L163Q probably damaging Het
Sarnp T A 10: 128,684,640 (GRCm39) S129T probably benign Het
Scube3 A T 17: 28,384,461 (GRCm39) K585M probably damaging Het
Sgk3 C T 1: 9,956,045 (GRCm39) probably benign Het
Skint6 C T 4: 112,953,790 (GRCm39) S458N probably benign Het
Slc25a54 A G 3: 109,005,954 (GRCm39) H154R possibly damaging Het
Sorbs1 A C 19: 40,313,216 (GRCm39) I690S probably damaging Het
Sqle C A 15: 59,202,678 (GRCm39) A512D probably damaging Het
Tedc2 A C 17: 24,435,315 (GRCm39) L358R probably damaging Het
Tfr2 A G 5: 137,585,268 (GRCm39) S767G probably benign Het
Thoc5 A G 11: 4,854,133 (GRCm39) E27G probably damaging Het
Ube3d C T 9: 86,254,512 (GRCm39) G323D probably benign Het
Unc13c T A 9: 73,485,774 (GRCm39) H1642L probably damaging Het
Vmn1r10 A T 6: 57,091,302 (GRCm39) H298L probably benign Het
Xpo4 A T 14: 57,880,956 (GRCm39) Y26N probably benign Het
Zer1 A G 2: 29,997,679 (GRCm39) L409P probably damaging Het
Zfyve28 A T 5: 34,382,332 (GRCm39) L256Q probably damaging Het
Zgrf1 A G 3: 127,355,902 (GRCm39) E376G possibly damaging Het
Other mutations in Trappc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01077:Trappc8 APN 18 20,970,035 (GRCm39) missense probably benign 0.20
IGL01367:Trappc8 APN 18 20,999,176 (GRCm39) missense probably benign 0.01
IGL01537:Trappc8 APN 18 20,968,061 (GRCm39) missense probably benign
IGL01563:Trappc8 APN 18 20,970,103 (GRCm39) missense probably benign 0.00
IGL01982:Trappc8 APN 18 21,007,769 (GRCm39) splice site probably benign
IGL02709:Trappc8 APN 18 20,970,235 (GRCm39) missense possibly damaging 0.94
IGL03126:Trappc8 APN 18 20,996,652 (GRCm39) missense probably damaging 1.00
IGL03290:Trappc8 APN 18 20,953,992 (GRCm39) missense probably damaging 1.00
IGL03348:Trappc8 APN 18 20,985,838 (GRCm39) missense probably damaging 1.00
hoppa UTSW 18 20,969,957 (GRCm39) missense probably benign 0.05
Lagomorpha UTSW 18 20,951,247 (GRCm39) missense probably benign 0.11
rabbit UTSW 18 21,007,737 (GRCm39) missense probably damaging 1.00
E7848:Trappc8 UTSW 18 20,983,975 (GRCm39) missense probably damaging 0.99
R0483:Trappc8 UTSW 18 20,978,658 (GRCm39) missense possibly damaging 0.60
R0492:Trappc8 UTSW 18 20,999,243 (GRCm39) missense probably benign 0.07
R0506:Trappc8 UTSW 18 20,977,245 (GRCm39) missense possibly damaging 0.49
R0610:Trappc8 UTSW 18 20,970,245 (GRCm39) missense probably damaging 1.00
R0892:Trappc8 UTSW 18 20,964,665 (GRCm39) critical splice donor site probably null
R1561:Trappc8 UTSW 18 20,974,680 (GRCm39) nonsense probably null
R1589:Trappc8 UTSW 18 20,996,608 (GRCm39) missense probably damaging 1.00
R1700:Trappc8 UTSW 18 20,966,055 (GRCm39) missense probably damaging 1.00
R1785:Trappc8 UTSW 18 20,967,997 (GRCm39) splice site probably null
R1786:Trappc8 UTSW 18 20,967,997 (GRCm39) splice site probably null
R1989:Trappc8 UTSW 18 20,978,708 (GRCm39) missense probably benign 0.04
R2181:Trappc8 UTSW 18 20,952,279 (GRCm39) critical splice donor site probably null
R2294:Trappc8 UTSW 18 20,999,211 (GRCm39) nonsense probably null
R4551:Trappc8 UTSW 18 21,007,729 (GRCm39) missense probably benign 0.10
R4594:Trappc8 UTSW 18 20,970,005 (GRCm39) missense probably benign
R4631:Trappc8 UTSW 18 21,000,865 (GRCm39) missense probably benign 0.22
R4734:Trappc8 UTSW 18 20,974,629 (GRCm39) nonsense probably null
R4834:Trappc8 UTSW 18 20,958,122 (GRCm39) missense probably damaging 0.99
R5114:Trappc8 UTSW 18 20,977,237 (GRCm39) missense probably benign 0.04
R5262:Trappc8 UTSW 18 20,951,247 (GRCm39) missense probably benign 0.11
R5384:Trappc8 UTSW 18 20,966,119 (GRCm39) splice site probably null
R5476:Trappc8 UTSW 18 20,998,165 (GRCm39) missense probably damaging 1.00
R5503:Trappc8 UTSW 18 20,969,957 (GRCm39) missense probably benign 0.05
R5577:Trappc8 UTSW 18 20,969,836 (GRCm39) nonsense probably null
R5809:Trappc8 UTSW 18 20,951,139 (GRCm39) missense probably benign 0.08
R5825:Trappc8 UTSW 18 21,006,977 (GRCm39) missense probably damaging 1.00
R5886:Trappc8 UTSW 18 21,007,737 (GRCm39) missense probably damaging 1.00
R6024:Trappc8 UTSW 18 20,966,066 (GRCm39) missense probably damaging 0.98
R6105:Trappc8 UTSW 18 20,979,504 (GRCm39) critical splice donor site probably null
R6229:Trappc8 UTSW 18 21,003,802 (GRCm39) missense probably benign 0.00
R6376:Trappc8 UTSW 18 20,970,132 (GRCm39) missense probably benign 0.07
R6403:Trappc8 UTSW 18 20,999,128 (GRCm39) missense probably benign
R6459:Trappc8 UTSW 18 20,969,925 (GRCm39) missense probably benign 0.40
R6673:Trappc8 UTSW 18 21,018,314 (GRCm39) missense probably benign 0.01
R7041:Trappc8 UTSW 18 21,007,729 (GRCm39) missense probably benign 0.10
R7276:Trappc8 UTSW 18 20,951,148 (GRCm39) missense probably damaging 0.99
R7341:Trappc8 UTSW 18 20,985,704 (GRCm39) missense probably damaging 1.00
R7684:Trappc8 UTSW 18 20,996,559 (GRCm39) missense probably benign 0.01
R7702:Trappc8 UTSW 18 20,958,119 (GRCm39) missense probably damaging 0.99
R8210:Trappc8 UTSW 18 21,006,938 (GRCm39) critical splice donor site probably null
R8958:Trappc8 UTSW 18 21,003,667 (GRCm39) missense probably benign 0.02
R9037:Trappc8 UTSW 18 20,961,539 (GRCm39) missense probably benign 0.00
R9217:Trappc8 UTSW 18 21,000,822 (GRCm39) missense probably benign 0.01
R9246:Trappc8 UTSW 18 20,993,590 (GRCm39) missense possibly damaging 0.64
R9623:Trappc8 UTSW 18 20,983,975 (GRCm39) missense possibly damaging 0.91
R9766:Trappc8 UTSW 18 20,979,630 (GRCm39) missense possibly damaging 0.68
X0065:Trappc8 UTSW 18 20,993,579 (GRCm39) missense probably benign 0.03
Z1177:Trappc8 UTSW 18 20,964,720 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TCTGACCTTCATTTGCACAAAC -3'
(R):5'- AGGCTCAGGAGTGACACTTTC -3'

Sequencing Primer
(F):5'- GACCTTCATTTGCACAAACTTATAC -3'
(R):5'- GCTCAGGAGTGACACTTTCATTCTG -3'
Posted On 2017-02-28